Table 1.
Multisystem involvement in 22q11.2 deletion syndrome
| System | Examples of Features That May Increase the Index of Suspicion for 22q11.2DS | Estimated Prevalence in 22q11.2DS* |
|---|---|---|
| Nervous system | Neurological | |
| Recurrent seizures, epilepsy16 | 16%, 4% | |
| Early‐onset PD4 | >5% | |
| Parkinsonism not meeting criteria for PD9, 10 | To be determined | |
| Other movement disorders (e.g., myoclonic disorders)9, 11, 12, 13 | To be determined | |
| Functional neurological disorder6 | To be determined | |
| Psychiatric | ||
| Attention deficit and hyperactivity disorder (pediatric history)8 | >30% | |
| Anxiety disorders8, 17 | ∼30% | |
| Schizophrenia8, 17 | 20% to 25% | |
| Cognitivea | ||
| Learning disabilities5 | >90% | |
| Intellectual disabilities5 | ∼35% | |
| Cognitive deterioration14 | To be determined | |
| Sensory system | Hearing loss (any type, especially conductive secondary to otitis media)18 | 6% to 60% |
| Hyposmia9, 10, 19 | >40% | |
| Endocrine system | Hypocalcemia20 | 80% |
| Obesity21 | >40% | |
| Hypothyroidism5 | 20% | |
| Circulatory system | Congenital heart defects requiring surgery5 | 30% to 40% |
| Thrombocytopenia (usually mild)5 | 30% | |
| Respiratory system and related | Hypernasal speech or other minor speech impediment5 | >90% |
| Velopharyngeal dysfunction2 | 15‐30% | |
| Obstructive sleep apnea22 | >10% | |
| Skeletal system | Scoliosis (usually mild)5 | 45% |
| Immune system | Recurrent infections (pediatric history)5 | 35% to 40% |
| Renal system | Structural urinary tract anomaly5 | 30% |
| Gastrointestinal system | Constipation (common, varying degrees)5 | To be determined |
| Dysmotility/dysphagia (common, varying degrees)5 | 35% |
*
Estimates of lifetime prevalences, all significantly higher than general population estimates, that may vary depending on the age of the patient and ascertainment sources.
a
Note also high variability from person to person.
22q11.2DS, 22q11.2 deletion syndrome.